Incidental Mutation 'R7423:Dock3'
ID 575832
Institutional Source Beutler Lab
Gene Symbol Dock3
Ensembl Gene ENSMUSG00000039716
Gene Name dedicator of cyto-kinesis 3
Synonyms Moca, PBP
MMRRC Submission 045501-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.549) question?
Stock # R7423 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 106770024-107109108 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106844370 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 910 (V910A)
Ref Sequence ENSEMBL: ENSMUSP00000047652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044532]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000044532
AA Change: V910A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000047652
Gene: ENSMUSG00000039716
AA Change: V910A

DomainStartEndE-ValueType
SH3 9 66 3.85e-9 SMART
Pfam:DOCK_N 69 412 1.4e-120 PFAM
Pfam:DOCK-C2 417 608 7.7e-56 PFAM
low complexity region 854 867 N/A INTRINSIC
low complexity region 892 916 N/A INTRINSIC
Pfam:DHR-2 1121 1628 9e-133 PFAM
low complexity region 1679 1690 N/A INTRINSIC
low complexity region 1693 1704 N/A INTRINSIC
low complexity region 1730 1754 N/A INTRINSIC
low complexity region 1880 1902 N/A INTRINSIC
low complexity region 1963 1977 N/A INTRINSIC
Predicted Effect
SMART Domains Protein: ENSMUSP00000130873
Gene: ENSMUSG00000039716
AA Change: V10A

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 96% (91/95)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is specifically expressed in the central nervous system (CNS). It encodes a member of the DOCK (dedicator of cytokinesis) family of guanine nucleotide exchange factors (GEFs). This protein, dedicator of cytokinesis 3 (DOCK3), is also known as modifier of cell adhesion (MOCA) and presenilin-binding protein (PBP). The DOCK3 and DOCK1, -2 and -4 share several conserved amino acids in their DHR-2 (DOCK homology region 2) domains that are required for GEF activity, and bind directly to WAVE proteins [Wiskott-Aldrich syndrome protein (WASP) family Verprolin-homologous proteins] via their DHR-1 domains. The DOCK3 induces axonal outgrowth in CNS by stimulating membrane recruitment of the WAVE complex and activating the small G protein Rac1. This gene is associated with an attention deficit hyperactivity disorder-like phenotype by a complex chromosomal rearrangement. [provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for a null allele exhibit abnormal behaviors and muscular weakness associated with axonal dystrophy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg2 A T 17: 57,175,257 (GRCm39) M85K probably benign Het
Actn4 C T 7: 28,593,680 (GRCm39) A905T probably damaging Het
Aff1 T A 5: 103,994,967 (GRCm39) V1055D probably damaging Het
Aox3 A G 1: 58,160,228 (GRCm39) E137G possibly damaging Het
Apaf1 A T 10: 90,895,468 (GRCm39) D443E probably damaging Het
Arl5b C A 2: 15,072,983 (GRCm39) A28E probably damaging Het
Atg16l1 T C 1: 87,714,023 (GRCm39) V478A probably damaging Het
Atp6v1f G C 6: 29,468,105 (GRCm39) E13Q probably null Het
Atpaf1 A T 4: 115,647,827 (GRCm39) K162M probably damaging Het
C3 A T 17: 57,521,767 (GRCm39) L1100Q probably damaging Het
Ccr1 A G 9: 123,764,422 (GRCm39) L36P probably damaging Het
Cct3 T C 3: 88,216,503 (GRCm39) L153S probably benign Het
Chd4 A G 6: 125,105,822 (GRCm39) D1813G possibly damaging Het
Chrm3 T C 13: 9,928,845 (GRCm39) I64V probably benign Het
Cnot2 A T 10: 116,328,303 (GRCm39) V477E probably damaging Het
Csf2rb2 T A 15: 78,176,760 (GRCm39) I211F possibly damaging Het
Dnah8 T C 17: 30,923,743 (GRCm39) L1237P possibly damaging Het
Dnttip2 T C 3: 122,069,175 (GRCm39) V130A probably benign Het
Dock10 G A 1: 80,501,497 (GRCm39) A1852V possibly damaging Het
Drgx A G 14: 32,350,778 (GRCm39) S205G probably damaging Het
Fbrs G A 7: 127,088,633 (GRCm39) W738* probably null Het
Fmnl3 T A 15: 99,227,281 (GRCm39) D162V probably damaging Het
Fosl2 A G 5: 32,307,807 (GRCm39) R133G probably damaging Het
Frmpd1 A G 4: 45,256,948 (GRCm39) Q172R probably damaging Het
Fsd1l A T 4: 53,686,406 (GRCm39) D273V probably damaging Het
Fstl4 T A 11: 52,959,382 (GRCm39) M141K possibly damaging Het
Gcfc2 A G 6: 81,923,541 (GRCm39) D535G probably damaging Het
Gm19410 A C 8: 36,271,761 (GRCm39) D1277A probably benign Het
Gnmt T A 17: 47,037,066 (GRCm39) N211Y probably damaging Het
Hic2 A G 16: 17,075,993 (GRCm39) D274G probably damaging Het
Hnrnpu A G 1: 178,156,849 (GRCm39) probably benign Het
Icam5 T C 9: 20,948,201 (GRCm39) S670P probably benign Het
Ighv5-4 A T 12: 113,561,120 (GRCm39) L100Q probably damaging Het
Il17rb A T 14: 29,719,072 (GRCm39) S337T probably damaging Het
Inf2 G T 12: 112,576,172 (GRCm39) R883L unknown Het
Inhbc C T 10: 127,193,275 (GRCm39) C247Y probably damaging Het
Ints4 A G 7: 97,156,926 (GRCm39) K333E probably damaging Het
Iyd A T 10: 3,497,088 (GRCm39) I148F probably damaging Het
Klk1b26 A T 7: 43,664,193 (GRCm39) D16V probably damaging Het
Krt15 A T 11: 100,026,386 (GRCm39) V100E possibly damaging Het
Lama2 A T 10: 27,088,222 (GRCm39) S852T probably benign Het
Mbtd1 A G 11: 93,834,622 (GRCm39) E600G probably benign Het
Mfap3 T G 11: 57,420,329 (GRCm39) N103K probably damaging Het
Mtor G A 4: 148,640,801 (GRCm39) E2536K possibly damaging Het
Mug2 G A 6: 122,056,685 (GRCm39) S1210N probably benign Het
Nat8 G A 6: 85,807,477 (GRCm39) L219F probably benign Het
Nisch A G 14: 30,893,658 (GRCm39) V1305A probably benign Het
Nup153 A T 13: 46,850,120 (GRCm39) probably null Het
Or3a1b G A 11: 74,012,811 (GRCm39) R232H probably benign Het
Otud6b A T 4: 14,825,858 (GRCm39) probably null Het
Pbld2 A G 10: 62,883,783 (GRCm39) T83A probably damaging Het
Pcx A T 19: 4,671,206 (GRCm39) M1144L probably benign Het
Pdpk1 C A 17: 24,329,874 (GRCm39) R81L probably benign Het
Pik3cd A T 4: 149,736,220 (GRCm39) probably null Het
Plch2 A C 4: 155,068,194 (GRCm39) D1477E probably damaging Het
Plek2 A G 12: 78,946,884 (GRCm39) I51T probably damaging Het
Plekhn1 A G 4: 156,315,142 (GRCm39) V505A probably benign Het
Pofut2 T C 10: 77,098,273 (GRCm39) S129P possibly damaging Het
Prdx5 C A 19: 6,887,370 (GRCm39) probably benign Het
Proca1 G T 11: 78,085,643 (GRCm39) probably benign Het
Ptprs A C 17: 56,721,793 (GRCm39) Y1752D probably damaging Het
Pum1 G A 4: 130,501,856 (GRCm39) V1127M probably damaging Het
Ralbp1 T C 17: 66,165,976 (GRCm39) R403G probably damaging Het
Reps1 A T 10: 17,969,635 (GRCm39) H246L possibly damaging Het
Rps6kc1 A C 1: 190,531,293 (GRCm39) M903R probably damaging Het
Rubcnl A G 14: 75,287,083 (GRCm39) T584A probably benign Het
Samd9l A T 6: 3,374,408 (GRCm39) V951E probably damaging Het
Sbf2 A G 7: 110,038,055 (GRCm39) F463L possibly damaging Het
Sdr16c6 G A 4: 4,076,921 (GRCm39) probably benign Het
Shoc1 A T 4: 59,076,264 (GRCm39) S560T probably benign Het
Slc26a8 A G 17: 28,867,177 (GRCm39) I548T probably benign Het
Slc2a13 T A 15: 91,456,883 (GRCm39) I140F probably damaging Het
Smtn A T 11: 3,481,200 (GRCm39) probably null Het
Sobp G T 10: 42,898,564 (GRCm39) C340* probably null Het
Sox6 A T 7: 115,149,258 (GRCm39) V413E probably benign Het
Spin1 T C 13: 51,277,326 (GRCm39) probably null Het
Sra1 T C 18: 36,800,536 (GRCm39) T224A probably benign Het
Sv2c A T 13: 96,185,056 (GRCm39) F207Y probably benign Het
Tcp10c T A 17: 13,581,503 (GRCm39) probably null Het
Tkt G A 14: 30,292,992 (GRCm39) G490S possibly damaging Het
Tpgs1 G T 10: 79,511,655 (GRCm39) A266S probably damaging Het
Tprg1 T G 16: 25,241,003 (GRCm39) S260A probably damaging Het
Trdv2-1 T A 14: 54,183,935 (GRCm39) W56R probably damaging Het
Trgv6 G T 13: 19,374,814 (GRCm39) G40W possibly damaging Het
Trpc4 T A 3: 54,225,450 (GRCm39) V933E probably benign Het
Ulk4 A T 9: 120,932,687 (GRCm39) M1051K possibly damaging Het
Unc119b A G 5: 115,272,743 (GRCm39) L76P probably damaging Het
Vmn2r15 G A 5: 109,445,394 (GRCm39) S10F probably benign Het
Vwce A G 19: 10,641,704 (GRCm39) E810G probably benign Het
Wdr7 T A 18: 63,910,451 (GRCm39) probably null Het
Wnk2 T A 13: 49,191,608 (GRCm39) E1283V probably benign Het
Zfp28 T C 7: 6,396,956 (GRCm39) C464R probably damaging Het
Zpld1 C T 16: 55,054,027 (GRCm39) C255Y probably damaging Het
Other mutations in Dock3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00940:Dock3 APN 9 106,788,576 (GRCm39) splice site probably benign
IGL01067:Dock3 APN 9 106,959,572 (GRCm39) critical splice donor site probably null
IGL01160:Dock3 APN 9 106,783,887 (GRCm39) missense probably damaging 1.00
IGL01290:Dock3 APN 9 106,835,599 (GRCm39) splice site probably benign
IGL01291:Dock3 APN 9 106,835,599 (GRCm39) splice site probably benign
IGL01391:Dock3 APN 9 106,784,433 (GRCm39) missense possibly damaging 0.55
IGL01399:Dock3 APN 9 106,870,670 (GRCm39) missense probably benign 0.06
IGL01660:Dock3 APN 9 106,909,563 (GRCm39) splice site probably benign
IGL01752:Dock3 APN 9 106,902,512 (GRCm39) splice site probably benign
IGL01820:Dock3 APN 9 106,773,092 (GRCm39) missense probably damaging 1.00
IGL01908:Dock3 APN 9 106,783,861 (GRCm39) missense possibly damaging 0.81
IGL02191:Dock3 APN 9 106,815,340 (GRCm39) missense probably benign
IGL02227:Dock3 APN 9 106,939,254 (GRCm39) missense probably damaging 0.98
IGL02309:Dock3 APN 9 106,790,351 (GRCm39) missense probably damaging 1.00
IGL02408:Dock3 APN 9 106,790,298 (GRCm39) splice site probably benign
IGL02469:Dock3 APN 9 106,863,215 (GRCm39) missense probably damaging 0.98
IGL02545:Dock3 APN 9 106,939,271 (GRCm39) missense probably damaging 1.00
IGL02894:Dock3 APN 9 106,807,298 (GRCm39) missense probably benign 0.00
IGL02934:Dock3 APN 9 106,900,944 (GRCm39) missense probably benign 0.01
IGL03027:Dock3 APN 9 106,870,677 (GRCm39) missense probably damaging 0.98
IGL03068:Dock3 APN 9 106,841,958 (GRCm39) missense possibly damaging 0.82
IGL03128:Dock3 APN 9 106,909,491 (GRCm39) missense probably benign 0.05
IGL03161:Dock3 APN 9 106,900,987 (GRCm39) missense probably damaging 0.99
IGL03263:Dock3 APN 9 106,807,330 (GRCm39) splice site probably benign
IGL03279:Dock3 APN 9 106,788,447 (GRCm39) splice site probably benign
IGL03366:Dock3 APN 9 106,882,632 (GRCm39) missense probably benign 0.01
Implosion UTSW 9 106,815,125 (GRCm39) missense probably benign 0.00
Squeeze UTSW 9 106,807,242 (GRCm39) missense probably damaging 1.00
Tight UTSW 9 106,872,080 (GRCm39) missense probably damaging 1.00
ANU05:Dock3 UTSW 9 106,772,862 (GRCm39) missense probably benign
R0025:Dock3 UTSW 9 106,790,467 (GRCm39) missense possibly damaging 0.90
R0025:Dock3 UTSW 9 106,790,467 (GRCm39) missense possibly damaging 0.90
R0030:Dock3 UTSW 9 106,789,512 (GRCm39) missense possibly damaging 0.64
R0076:Dock3 UTSW 9 106,788,685 (GRCm39) splice site probably benign
R0076:Dock3 UTSW 9 106,788,685 (GRCm39) splice site probably benign
R0206:Dock3 UTSW 9 106,874,195 (GRCm39) nonsense probably null
R0208:Dock3 UTSW 9 106,874,195 (GRCm39) nonsense probably null
R0384:Dock3 UTSW 9 106,779,094 (GRCm39) splice site probably benign
R0610:Dock3 UTSW 9 106,900,987 (GRCm39) missense probably damaging 0.99
R0731:Dock3 UTSW 9 106,847,055 (GRCm39) missense probably damaging 1.00
R1184:Dock3 UTSW 9 106,846,999 (GRCm39) missense probably damaging 1.00
R1350:Dock3 UTSW 9 106,791,831 (GRCm39) missense possibly damaging 0.52
R1393:Dock3 UTSW 9 106,788,548 (GRCm39) missense probably damaging 1.00
R1424:Dock3 UTSW 9 106,790,392 (GRCm39) missense probably damaging 1.00
R1469:Dock3 UTSW 9 106,832,908 (GRCm39) missense probably benign 0.37
R1469:Dock3 UTSW 9 106,832,908 (GRCm39) missense probably benign 0.37
R1539:Dock3 UTSW 9 106,874,112 (GRCm39) missense probably benign 0.23
R1539:Dock3 UTSW 9 106,829,563 (GRCm39) missense probably damaging 1.00
R1571:Dock3 UTSW 9 106,815,158 (GRCm39) missense possibly damaging 0.92
R1682:Dock3 UTSW 9 106,851,040 (GRCm39) missense probably damaging 0.98
R1795:Dock3 UTSW 9 106,902,534 (GRCm39) missense probably damaging 0.99
R1987:Dock3 UTSW 9 106,985,620 (GRCm39) missense probably benign 0.01
R2000:Dock3 UTSW 9 106,870,160 (GRCm39) splice site probably benign
R2074:Dock3 UTSW 9 106,870,662 (GRCm39) missense possibly damaging 0.46
R2114:Dock3 UTSW 9 106,870,743 (GRCm39) missense probably benign 0.00
R2265:Dock3 UTSW 9 106,818,525 (GRCm39) missense probably damaging 1.00
R2269:Dock3 UTSW 9 106,818,525 (GRCm39) missense probably damaging 1.00
R2370:Dock3 UTSW 9 106,829,554 (GRCm39) missense probably damaging 1.00
R2377:Dock3 UTSW 9 106,773,090 (GRCm39) missense probably damaging 0.98
R2385:Dock3 UTSW 9 106,868,324 (GRCm39) missense probably damaging 1.00
R2426:Dock3 UTSW 9 106,791,740 (GRCm39) missense possibly damaging 0.76
R3076:Dock3 UTSW 9 106,818,725 (GRCm39) critical splice acceptor site probably null
R3122:Dock3 UTSW 9 106,788,542 (GRCm39) missense probably damaging 0.99
R4052:Dock3 UTSW 9 106,850,995 (GRCm39) missense probably damaging 0.99
R4294:Dock3 UTSW 9 106,807,242 (GRCm39) missense probably damaging 1.00
R4623:Dock3 UTSW 9 106,939,244 (GRCm39) missense possibly damaging 0.61
R4664:Dock3 UTSW 9 106,870,743 (GRCm39) missense possibly damaging 0.71
R4705:Dock3 UTSW 9 106,902,535 (GRCm39) missense probably damaging 1.00
R4771:Dock3 UTSW 9 106,829,557 (GRCm39) missense possibly damaging 0.89
R4898:Dock3 UTSW 9 106,870,171 (GRCm39) missense possibly damaging 0.75
R4898:Dock3 UTSW 9 106,807,266 (GRCm39) missense probably damaging 1.00
R4948:Dock3 UTSW 9 106,868,354 (GRCm39) missense probably damaging 0.96
R4961:Dock3 UTSW 9 106,818,515 (GRCm39) missense probably damaging 1.00
R4986:Dock3 UTSW 9 106,809,182 (GRCm39) missense probably damaging 1.00
R5054:Dock3 UTSW 9 106,815,105 (GRCm39) missense probably damaging 1.00
R5065:Dock3 UTSW 9 106,832,883 (GRCm39) missense probably damaging 1.00
R5081:Dock3 UTSW 9 106,868,292 (GRCm39) missense probably damaging 1.00
R5101:Dock3 UTSW 9 106,846,980 (GRCm39) missense probably damaging 1.00
R5135:Dock3 UTSW 9 106,810,196 (GRCm39) missense probably damaging 1.00
R5227:Dock3 UTSW 9 106,863,269 (GRCm39) missense probably damaging 1.00
R5257:Dock3 UTSW 9 106,874,124 (GRCm39) missense probably damaging 1.00
R5258:Dock3 UTSW 9 106,874,124 (GRCm39) missense probably damaging 1.00
R5273:Dock3 UTSW 9 106,777,904 (GRCm39) critical splice donor site probably null
R5322:Dock3 UTSW 9 106,779,028 (GRCm39) missense probably benign 0.14
R5482:Dock3 UTSW 9 106,855,937 (GRCm39) nonsense probably null
R5553:Dock3 UTSW 9 106,868,309 (GRCm39) missense possibly damaging 0.81
R5631:Dock3 UTSW 9 106,832,898 (GRCm39) missense probably benign 0.01
R5739:Dock3 UTSW 9 106,850,995 (GRCm39) missense possibly damaging 0.92
R5838:Dock3 UTSW 9 106,772,687 (GRCm39) missense possibly damaging 0.51
R5888:Dock3 UTSW 9 106,901,002 (GRCm39) missense probably benign 0.12
R5960:Dock3 UTSW 9 106,788,554 (GRCm39) nonsense probably null
R5974:Dock3 UTSW 9 106,871,261 (GRCm39) missense probably damaging 1.00
R6116:Dock3 UTSW 9 106,809,161 (GRCm39) missense probably damaging 1.00
R6162:Dock3 UTSW 9 106,841,998 (GRCm39) missense possibly damaging 0.88
R6176:Dock3 UTSW 9 106,790,147 (GRCm39) missense probably benign 0.05
R6219:Dock3 UTSW 9 106,872,080 (GRCm39) missense probably damaging 1.00
R6238:Dock3 UTSW 9 106,790,147 (GRCm39) missense probably benign 0.05
R6266:Dock3 UTSW 9 106,841,952 (GRCm39) missense probably damaging 0.99
R6291:Dock3 UTSW 9 106,785,631 (GRCm39) missense probably benign
R6531:Dock3 UTSW 9 106,844,415 (GRCm39) missense probably benign
R6567:Dock3 UTSW 9 106,773,946 (GRCm39) missense probably benign 0.13
R6572:Dock3 UTSW 9 106,866,674 (GRCm39) missense probably damaging 0.99
R6620:Dock3 UTSW 9 106,815,125 (GRCm39) missense probably benign 0.00
R6726:Dock3 UTSW 9 107,036,651 (GRCm39) nonsense probably null
R7085:Dock3 UTSW 9 106,779,086 (GRCm39) missense probably damaging 1.00
R7151:Dock3 UTSW 9 106,841,916 (GRCm39) missense possibly damaging 0.68
R7320:Dock3 UTSW 9 106,772,723 (GRCm39) missense probably benign 0.20
R7357:Dock3 UTSW 9 106,882,568 (GRCm39) missense probably benign 0.34
R7426:Dock3 UTSW 9 106,772,782 (GRCm39) missense probably benign
R7439:Dock3 UTSW 9 106,900,931 (GRCm39) missense probably damaging 1.00
R7452:Dock3 UTSW 9 106,866,664 (GRCm39) missense probably damaging 1.00
R7470:Dock3 UTSW 9 106,882,644 (GRCm39) missense probably damaging 1.00
R7879:Dock3 UTSW 9 106,785,700 (GRCm39) missense probably benign 0.05
R8047:Dock3 UTSW 9 106,870,208 (GRCm39) missense possibly damaging 0.93
R8308:Dock3 UTSW 9 106,790,371 (GRCm39) missense probably benign 0.00
R8837:Dock3 UTSW 9 106,774,539 (GRCm39) missense probably benign
R8862:Dock3 UTSW 9 106,855,927 (GRCm39) missense probably damaging 1.00
R8952:Dock3 UTSW 9 106,850,958 (GRCm39) missense probably benign 0.03
R9230:Dock3 UTSW 9 106,807,223 (GRCm39) missense probably damaging 1.00
R9269:Dock3 UTSW 9 106,818,522 (GRCm39) missense probably benign 0.01
R9272:Dock3 UTSW 9 106,774,569 (GRCm39) missense probably benign 0.00
R9344:Dock3 UTSW 9 106,870,763 (GRCm39) missense probably damaging 1.00
R9757:Dock3 UTSW 9 106,901,035 (GRCm39) missense possibly damaging 0.48
R9764:Dock3 UTSW 9 106,959,713 (GRCm39) missense probably benign 0.00
R9766:Dock3 UTSW 9 106,788,483 (GRCm39) missense probably benign 0.01
X0023:Dock3 UTSW 9 106,863,197 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- TAACGTGCTGACCATCATGC -3'
(R):5'- CCCTTCACAGTCCATGTTGGTG -3'

Sequencing Primer
(F):5'- TGCTGACCATCATGCAGGGAG -3'
(R):5'- CCATGTTGGTGAGTCTACAAGATCAG -3'
Posted On 2019-10-07